High-confidence alternative splicing events at the PALB2 locus (in-frame events)
| Designation* | Biotype† | RNA‡ | Protein‡ | Coding potential§ | Rationale§ | Blood | Breast | Ovary |
| ▼(AFE600)+ ∆(E1)¶ | Terminal modification | r.1_28delins28+805_28+858 | p.Asp2_Lys16delins17 | Uncertain | Damaging to CC | Yes | Yes | – |
| ▼(E1q9) | Donor shift | r.48_49ins48+1_48+9 | (p.Lys16_Leu17ins3) | Uncertain | Uncertain impact on CC | Yes | – | Yes |
| ∆(E2p6) | Acceptor shift | r.49_54del | (p.Leu17_Lys18del) | Uncertain | Uncertain impact on CC | Yes | Yes | Yes |
| ∆(E2) | Cassette | r.49_108del | (p.Leu17_Asn36del) | LoF | Damaging to CC | Yes | – | Yes |
| ∆(E4) | Cassette | r.212_1684del | (p.Glu71_Lys561del) | LoF | Damaging to ChAM | Yes | Yes | Yes |
| ∆(E5p24) | Acceptor shift | r.1685_1708del | (p.Gly562_Lys569del) | Uncertain | No domain affected | Yes | Yes | Yes |
| ∆(E6)** | Cassette | r.2515_2586del | (pThr839_Lys862del) | LoF** | Damaging to WD40¥ | Yes | Yes | Yes |
| ▼(E7p42) | Acceptor shift | r.2586_2587ins2587-42_2587–1 | (p.Lys862_Asn863ins14) | Uncertain | Uncertain impact on WD40 | Yes | Yes | Yes |
| ∆(E7) | Cassette | r.2587_2748del | (p.Arg863_Glu916del) | LoF | Damaging to WD40 | Yes | Yes | Yes |
| ∆(E9p30) | Acceptor shift | r.2835_2864del | (p.Ala946_Glu954del) | LoF | Damaging to WD40 | Yes | Yes | Yes |
| ∆(E9) | Cassette | r.2835_2996del | (p.Ala946_Gly1000del) | LoF | Damaging to WD40 | Yes | Yes | Yes |
| ∆(E9_E10) | Multicassette | r.2835_3113del | (p.Ala946_Trp1038del) | LoF | Damaging to WD40 | Yes | Yes | – |
| ∆(E10p3) | Acceptor shift | r.2997_2999del | (p.Gly1000del) | Uncertain | Uncertain impact on WD40 | Yes | Yes | – |
| ∆(E10) | Cassette | r.2997_3113del | (p.Gly1000_Trp1038del) | LoF | Damaging to WD40 | Yes | Yes | Yes |
| ∆(E11_E12)†† | Multicassette | r.3114_3350del | (p.Asn1039_Arg1117del) | LoF | Damaging to WD40 | Yes | Yes | Yes |
*See supplementary material section 2.1 and figure 2 for details.
†Biotype according to ENCODE.25
‡RNA and predicted protein described according to the Human Genome Variation Society guidelines at http://varnomen.hgvs.org/, using Ensembl transcript ENST00000261584.8 as a reference.
§Uncertain coding potential if the transcript encodes a protein predicted to preserve (or partially preserve) functional capacity. See online supplemental material section 2.3 and figure 4 for further details.
¶Only▼(AFE600)+∆(E1) described in GENCODE (comprehensive gene annotation from GENCODE release 26 retrieved through Ensembl at http://www.ensembl.org/).
**Δ(E6) transcripts code for a hypomorphic protein (instable, but with residual activity).26
††Only Δ11_12 described previously in the literature.12
CC, N-terminal coiled-coil domain; ChAM, chromatin- associated motif; LOF, loss-of-function; WD40, WD40 β-propeller C-terminal domain.